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Protein

Transcription factor AP-2-beta

Gene

TFAP2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-beta appears to be required for normal face and limb development and for proper terminal differentiation and function of renal tubular epithelia.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-3232118 SUMOylation of transcription factors
R-HSA-8866904 Negative regulation of activity of TFAP2 (AP-2) family transcription factors
R-HSA-8866907 Activation of the TFAP2 (AP-2) family of transcription factors
R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
SIGNORiQ92481

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor AP-2-beta
Short name:
AP2-beta
Alternative name(s):
Activating enhancer-binding protein 2-beta
Gene namesi
Name:TFAP2B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000008196.12
HGNCiHGNC:11743 TFAP2B
MIMi601601 gene
neXtProtiNX_Q92481

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Char syndrome (CHAR)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
See also OMIM:169100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01697773P → R in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338910EnsemblClinVar.1
Natural variantiVAR_016978236R → C in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338912EnsemblClinVar.1
Natural variantiVAR_016979236R → S in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338912EnsemblClinVar.1
Natural variantiVAR_011318275A → D in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338914EnsemblClinVar.1
Natural variantiVAR_016980285R → Q in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338915EnsemblClinVar.1
Natural variantiVAR_011319300R → C in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338917EnsemblClinVar.1
Patent ductus arteriosus 2 (PDA2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth.
See also OMIM:617035

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7021
GeneReviewsiTFAP2B
MalaCardsiTFAP2B
MIMi169100 phenotype
617035 phenotype
OpenTargetsiENSG00000008196
Orphaneti46627 Char syndrome
466729 Familial patent arterial duct
PharmGKBiPA36460

Polymorphism and mutation databases

BioMutaiTFAP2B
DMDMi152031557

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001848011 – 460Transcription factor AP-2-betaAdd BLAST460

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki21Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)Curated
Modified residuei258Phosphoserine; by PKABy similarity1

Post-translational modificationi

Sumoylated on Lys-21; which inhibits transcriptional activity.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ92481
MaxQBiQ92481
PaxDbiQ92481
PeptideAtlasiQ92481
PRIDEiQ92481
ProteomicsDBi75261
75262 [Q92481-2]

PTM databases

iPTMnetiQ92481
PhosphoSitePlusiQ92481

Expressioni

Gene expression databases

BgeeiENSG00000008196 Expressed in 89 organ(s), highest expression level in corpus epididymis
CleanExiHS_TFAP2B
ExpressionAtlasiQ92481 baseline and differential
GenevisibleiQ92481 HS

Organism-specific databases

HPAiHPA034683
HPA062942

Interactioni

Subunit structurei

Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. Interacts with CITED4. Interacts with UBE2I. Interacts with KCTD1; this interaction represses transcription activation. Interacts with CITED2 (via C-terminus); the interaction stimulates TFAP2B-transcriptional activity.5 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112879, 13 interactors
IntActiQ92481, 4 interactors
STRINGi9606.ENSP00000377265

Structurei

3D structure databases

ProteinModelPortaliQ92481
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi41 – 131Gln/Pro-rich (transactivation domain)Add BLAST91

Sequence similaritiesi

Belongs to the AP-2 family.Curated

Phylogenomic databases

eggNOGiKOG3811 Eukaryota
ENOG410XR9E LUCA
GeneTreeiENSGT00550000074577
HOVERGENiHBG002455
InParanoidiQ92481
KOiK09176
OMAiIGHPGME
OrthoDBiEOG091G0PR6
PhylomeDBiQ92481
TreeFamiTF313718

Family and domain databases

InterProiView protein in InterPro
IPR004979 TF_AP2
IPR008122 TF_AP2_beta
IPR013854 TF_AP2_C
PANTHERiPTHR10812 PTHR10812, 1 hit
PTHR10812:SF14 PTHR10812:SF14, 1 hit
PfamiView protein in Pfam
PF03299 TF_AP-2, 1 hit
PRINTSiPR01750 AP2BTNSCPFCT
PR01748 AP2TNSCPFCT

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92481-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MHSPPRDQAA IMLWKLVENV KYEDIYEDRH DGVPSHSSRL SQLGSVSQGP
60 70 80 90 100
YSSAPPLSHT PSSDFQPPYF PPPYQPLPYH QSQDPYSHVN DPYSLNPLHQ
110 120 130 140 150
PQQHPWGQRQ RQEVGSEAGS LLPQPRAALP QLSGLDPRRD YHSVRRPDVL
160 170 180 190 200
LHSAHHGLDA GMGDSLSLHG LGHPGMEDVQ SVEDANNSGM NLLDQSVIKK
210 220 230 240 250
VPVPPKSVTS LMMNKDGFLG GMSVNTGEVF CSVPGRLSLL SSTSKYKVTV
260 270 280 290 300
GEVQRRLSPP ECLNASLLGG VLRRAKSKNG GRSLRERLEK IGLNLPAGRR
310 320 330 340 350
KAANVTLLTS LVEGEAVHLA RDFGYICETE FPAKAVSEYL NRQHTDPSDL
360 370 380 390 400
HSRKNMLLAT KQLCKEFTDL LAQDRTPIGN SRPSPILEPG IQSCLTHFSL
410 420 430 440 450
ITHGFGAPAI CAALTALQNY LTEALKGMDK MFLNNTTTNR HTSGEGPGSK
460
TGDKEEKHRK
Length:460
Mass (Da):50,474
Last modified:July 10, 2007 - v2
Checksum:iA6420EA0C265DDA2
GO
Isoform 2 (identifier: Q92481-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     27-27: E → EMLVHTYSSM

Note: No experimental confirmation available.
Show »
Length:469
Mass (Da):51,524
Checksum:iC4E0DCC428DBF0F8
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6R4Y8X6R4Y8_HUMAN
Transcription factor AP-2-beta
TFAP2B
198Annotation score:

Sequence cautioni

The sequence CAA64990 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAA71047 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAC01130 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti258S → A in CAA71047 (PubMed:9271117).Curated1
Sequence conflicti362 – 460QLCKE…EKHRK → GNFVKNLRIYWRRTGHR in CAA71047 (PubMed:9271117).CuratedAdd BLAST99

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01697773P → R in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338910EnsemblClinVar.1
Natural variantiVAR_016978236R → C in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338912EnsemblClinVar.1
Natural variantiVAR_016979236R → S in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338912EnsemblClinVar.1
Natural variantiVAR_011318275A → D in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338914EnsemblClinVar.1
Natural variantiVAR_016980285R → Q in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338915EnsemblClinVar.1
Natural variantiVAR_011319300R → C in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338917EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00640827E → EMLVHTYSSM in isoform 2. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y09912 Genomic DNA Translation: CAA71047.1 Different initiation.
AL031224 Genomic DNA No translation available.
AL049693 Genomic DNA No translation available.
BC037225 mRNA Translation: AAH37225.2
AJ278356 Genomic DNA Translation: CAC01130.1 Different initiation.
X95694 mRNA Translation: CAA64990.1 Different initiation.
CCDSiCCDS4934.2 [Q92481-1]
RefSeqiNP_003212.2, NM_003221.3 [Q92481-1]
XP_011513139.1, XM_011514837.2 [Q92481-2]
UniGeneiHs.33102

Genome annotation databases

EnsembliENST00000393655; ENSP00000377265; ENSG00000008196 [Q92481-1]
GeneIDi7021
KEGGihsa:7021
UCSCiuc003pag.4 human [Q92481-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Activating protein 2 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y09912 Genomic DNA Translation: CAA71047.1 Different initiation.
AL031224 Genomic DNA No translation available.
AL049693 Genomic DNA No translation available.
BC037225 mRNA Translation: AAH37225.2
AJ278356 Genomic DNA Translation: CAC01130.1 Different initiation.
X95694 mRNA Translation: CAA64990.1 Different initiation.
CCDSiCCDS4934.2 [Q92481-1]
RefSeqiNP_003212.2, NM_003221.3 [Q92481-1]
XP_011513139.1, XM_011514837.2 [Q92481-2]
UniGeneiHs.33102

3D structure databases

ProteinModelPortaliQ92481
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112879, 13 interactors
IntActiQ92481, 4 interactors
STRINGi9606.ENSP00000377265

PTM databases

iPTMnetiQ92481
PhosphoSitePlusiQ92481

Polymorphism and mutation databases

BioMutaiTFAP2B
DMDMi152031557

Proteomic databases

EPDiQ92481
MaxQBiQ92481
PaxDbiQ92481
PeptideAtlasiQ92481
PRIDEiQ92481
ProteomicsDBi75261
75262 [Q92481-2]

Protocols and materials databases

DNASUi7021
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393655; ENSP00000377265; ENSG00000008196 [Q92481-1]
GeneIDi7021
KEGGihsa:7021
UCSCiuc003pag.4 human [Q92481-1]

Organism-specific databases

CTDi7021
DisGeNETi7021
EuPathDBiHostDB:ENSG00000008196.12
GeneCardsiTFAP2B
GeneReviewsiTFAP2B
HGNCiHGNC:11743 TFAP2B
HPAiHPA034683
HPA062942
MalaCardsiTFAP2B
MIMi169100 phenotype
601601 gene
617035 phenotype
neXtProtiNX_Q92481
OpenTargetsiENSG00000008196
Orphaneti46627 Char syndrome
466729 Familial patent arterial duct
PharmGKBiPA36460
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3811 Eukaryota
ENOG410XR9E LUCA
GeneTreeiENSGT00550000074577
HOVERGENiHBG002455
InParanoidiQ92481
KOiK09176
OMAiIGHPGME
OrthoDBiEOG091G0PR6
PhylomeDBiQ92481
TreeFamiTF313718

Enzyme and pathway databases

ReactomeiR-HSA-3232118 SUMOylation of transcription factors
R-HSA-8866904 Negative regulation of activity of TFAP2 (AP-2) family transcription factors
R-HSA-8866907 Activation of the TFAP2 (AP-2) family of transcription factors
R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
SIGNORiQ92481

Miscellaneous databases

GeneWikiiTFAP2B
GenomeRNAii7021
PROiPR:Q92481
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000008196 Expressed in 89 organ(s), highest expression level in corpus epididymis
CleanExiHS_TFAP2B
ExpressionAtlasiQ92481 baseline and differential
GenevisibleiQ92481 HS

Family and domain databases

InterProiView protein in InterPro
IPR004979 TF_AP2
IPR008122 TF_AP2_beta
IPR013854 TF_AP2_C
PANTHERiPTHR10812 PTHR10812, 1 hit
PTHR10812:SF14 PTHR10812:SF14, 1 hit
PfamiView protein in Pfam
PF03299 TF_AP-2, 1 hit
PRINTSiPR01750 AP2BTNSCPFCT
PR01748 AP2TNSCPFCT
ProtoNetiSearch...

Entry informationi

Entry nameiAP2B_HUMAN
AccessioniPrimary (citable) accession number: Q92481
Secondary accession number(s): Q5JYX6
, Q9NQ63, Q9NU99, Q9UJI7, Q9Y214, Q9Y3K3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: July 10, 2007
Last modified: November 7, 2018
This is version 170 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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